The past, present, and future of human centromere genomics.

dc.contributor.author

Aldrup-Macdonald, Megan E

dc.contributor.author

Sullivan, Beth A

dc.coverage.spatial

Switzerland

dc.date.accessioned

2015-03-18T19:19:44Z

dc.date.issued

2014-01-24

dc.description.abstract

The centromere is the chromosomal locus essential for chromosome inheritance and genome stability. Human centromeres are located at repetitive alpha satellite DNA arrays that compose approximately 5% of the genome. Contiguous alpha satellite DNA sequence is absent from the assembled reference genome, limiting current understanding of centromere organization and function. Here, we review the progress in centromere genomics spanning the discovery of the sequence to its molecular characterization and the work done during the Human Genome Project era to elucidate alpha satellite structure and sequence variation. We discuss exciting recent advances in alpha satellite sequence assembly that have provided important insight into the abundance and complex organization of this sequence on human chromosomes. In light of these new findings, we offer perspectives for future studies of human centromere assembly and function.

dc.identifier

http://www.ncbi.nlm.nih.gov/pubmed/24683489

dc.identifier.uri

https://hdl.handle.net/10161/9508

dc.language

eng

dc.publisher

MDPI AG

dc.relation.ispartof

Genes (Basel)

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CENP

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alpha satellite

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chromosome truncation

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dicentric

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heterochromatin

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higher order repeat

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human artificial chromosome

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tet operon

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transcription

dc.title

The past, present, and future of human centromere genomics.

dc.type

Journal article

duke.contributor.orcid

Sullivan, Beth A|0000-0001-5216-4603

pubs.author-url

http://www.ncbi.nlm.nih.gov/pubmed/24683489

pubs.begin-page

33

pubs.end-page

50

pubs.issue

1

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Basic Science Departments

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Duke

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Duke Cancer Institute

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Institutes and Centers

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Molecular Genetics and Microbiology

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School of Medicine

pubs.publication-status

Published

pubs.volume

5

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